{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916078303",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 85,
          "referenceAllele": "V",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004279",
      "geneNCBI_id": 2702,
      "geneSymbol": "GJA5",
      "hgvs": [
        "NP_859054.1:p.Val85Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128543",
          "hgvs": "NM_181703.4:c.253G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184340"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38619[alleleid]",
        "alleleId": 38619,
        "preferredName": "NM_181703.4(GJA5):c.253G>A (p.Val85Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29664",
        "RCV": [
          "RCV000022513"
        ],
        "variationId": 29664
      }
    ]
  },
  "type": "amino-acid"
}